

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.10062361 |
| 2 | * spermatid development (GO:0007286) | 8.67544122 |
| 3 | multicellular organism reproduction (GO:0032504) | 8.57377780 |
| 4 | binding of sperm to zona pellucida (GO:0007339) | 8.31590281 |
| 5 | sperm-egg recognition (GO:0035036) | 7.98802241 |
| 6 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 7.56525695 |
| 7 | axonemal dynein complex assembly (GO:0070286) | 7.50741030 |
| 8 | sperm capacitation (GO:0048240) | 7.41561704 |
| 9 | reproduction (GO:0000003) | 7.22338124 |
| 10 | motile cilium assembly (GO:0044458) | 7.00295461 |
| 11 | plasma membrane fusion (GO:0045026) | 7.00096063 |
| 12 | cell-cell recognition (GO:0009988) | 6.78268330 |
| 13 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.72522217 |
| 14 | chromosome condensation (GO:0030261) | 6.72348266 |
| 15 | spermatid nucleus differentiation (GO:0007289) | 6.56942691 |
| 16 | DNA packaging (GO:0006323) | 6.52318876 |
| 17 | negative regulation of inclusion body assembly (GO:0090084) | 6.50860690 |
| 18 | male meiosis (GO:0007140) | 6.46672515 |
| 19 | microtubule depolymerization (GO:0007019) | 6.42808261 |
| 20 | calcium ion-dependent exocytosis (GO:0017156) | 6.35901260 |
| 21 | cilium or flagellum-dependent cell motility (GO:0001539) | 6.32825634 |
| 22 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.17946866 |
| 23 | protein polyglutamylation (GO:0018095) | 6.09214943 |
| 24 | nucleosome disassembly (GO:0006337) | 6.07721587 |
| 25 | protein-DNA complex disassembly (GO:0032986) | 6.07721587 |
| 26 | single fertilization (GO:0007338) | 6.02078372 |
| 27 | single strand break repair (GO:0000012) | 5.84196683 |
| 28 | protein targeting to Golgi (GO:0000042) | 5.76127936 |
| 29 | epithelial cilium movement (GO:0003351) | 5.73432288 |
| 30 | organic cation transport (GO:0015695) | 5.67875816 |
| 31 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 5.66623184 |
| 32 | spermatogenesis (GO:0007283) | 5.63988363 |
| 33 | male gamete generation (GO:0048232) | 5.61815204 |
| 34 | rRNA methylation (GO:0031167) | 5.52863014 |
| 35 | polyamine biosynthetic process (GO:0006596) | 5.52455141 |
| 36 | establishment of protein localization to Golgi (GO:0072600) | 5.50525726 |
| 37 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.32762727 |
| 38 | positive regulation of catecholamine secretion (GO:0033605) | 5.19478696 |
| 39 | gamete generation (GO:0007276) | 5.18198504 |
| 40 | microtubule polymerization or depolymerization (GO:0031109) | 5.09546035 |
| 41 | microtubule severing (GO:0051013) | 5.03738052 |
| 42 | * germ cell development (GO:0007281) | 5.03657020 |
| 43 | cilium movement (GO:0003341) | 4.82576065 |
| 44 | response to acidic pH (GO:0010447) | 4.71162029 |
| 45 | fertilization (GO:0009566) | 4.68008391 |
| 46 | * cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.64929091 |
| 47 | sexual reproduction (GO:0019953) | 4.62560913 |
| 48 | regulation of cilium movement (GO:0003352) | 4.58884539 |
| 49 | centriole assembly (GO:0098534) | 4.57309759 |
| 50 | rRNA modification (GO:0000154) | 4.53344023 |
| 51 | regulation of inclusion body assembly (GO:0090083) | 4.52673759 |
| 52 | coenzyme catabolic process (GO:0009109) | 4.38788626 |
| 53 | response to pheromone (GO:0019236) | 4.37224129 |
| 54 | multicellular organismal reproductive process (GO:0048609) | 4.20098238 |
| 55 | ventricular system development (GO:0021591) | 4.17860744 |
| 56 | protein localization to Golgi apparatus (GO:0034067) | 4.05871197 |
| 57 | centriole replication (GO:0007099) | 4.02397401 |
| 58 | cellular ketone body metabolic process (GO:0046950) | 3.99123758 |
| 59 | positive regulation of Rab GTPase activity (GO:0032851) | 3.84856119 |
| 60 | regulation of Rab GTPase activity (GO:0032313) | 3.84856119 |
| 61 | histone exchange (GO:0043486) | 3.80874116 |
| 62 | cellular response to pH (GO:0071467) | 3.80718716 |
| 63 | male sex determination (GO:0030238) | 3.77444576 |
| 64 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.64247724 |
| 65 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.62646134 |
| 66 | histone H3-K9 demethylation (GO:0033169) | 3.59507804 |
| 67 | mitochondrion degradation (GO:0000422) | 3.53582934 |
| 68 | amine biosynthetic process (GO:0009309) | 3.52342916 |
| 69 | potassium ion export (GO:0071435) | 3.51717786 |
| 70 | ketone body metabolic process (GO:1902224) | 3.50456756 |
| 71 | positive regulation of glycolytic process (GO:0045821) | 3.49720470 |
| 72 | synapsis (GO:0007129) | 3.49480780 |
| 73 | relaxation of smooth muscle (GO:0044557) | 3.46799381 |
| 74 | nucleus organization (GO:0006997) | 3.44869790 |
| 75 | regulation of oxidative stress-induced neuron death (GO:1903203) | 3.42247040 |
| 76 | activation of protein kinase B activity (GO:0032148) | 3.37129403 |
| 77 | RNA destabilization (GO:0050779) | 3.36710553 |
| 78 | cell recognition (GO:0008037) | 3.32182917 |
| 79 | cell wall macromolecule metabolic process (GO:0044036) | 3.31649802 |
| 80 | regulation of ARF GTPase activity (GO:0032312) | 3.31094839 |
| 81 | Leydig cell differentiation (GO:0033327) | 3.27529326 |
| 82 | acrosome assembly (GO:0001675) | 3.27249447 |
| 83 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.25996035 |
| 84 | regulation of oxidative phosphorylation (GO:0002082) | 3.14121361 |
| 85 | cGMP-mediated signaling (GO:0019934) | 3.11290140 |
| 86 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.11274891 |
| 87 | regulation of centriole replication (GO:0046599) | 3.08134162 |
| 88 | cell wall macromolecule catabolic process (GO:0016998) | 3.07715282 |
| 89 | piRNA metabolic process (GO:0034587) | 3.07469853 |
| 90 | regulation of microtubule-based movement (GO:0060632) | 3.01494472 |
| 91 | oogenesis (GO:0048477) | 3.01100358 |
| 92 | regulation of phosphatase activity (GO:0010921) | 3.00159481 |
| 93 | cranial nerve morphogenesis (GO:0021602) | 2.98914046 |
| 94 | chromatin silencing (GO:0006342) | 2.96782195 |
| 95 | polyamine metabolic process (GO:0006595) | 2.95452826 |
| 96 | meiotic nuclear division (GO:0007126) | 2.94570129 |
| 97 | receptor recycling (GO:0001881) | 2.91583830 |
| 98 | seminiferous tubule development (GO:0072520) | 2.90845441 |
| 99 | sperm motility (GO:0030317) | 12.6222075 |
| 100 | acrosome reaction (GO:0007340) | 12.5105476 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 7.50754891 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 6.06944006 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.07353408 |
| 4 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 3.02463880 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.83982295 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.67403407 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.50992865 |
| 8 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.50992865 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.46301446 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.33849203 |
| 11 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.28491274 |
| 12 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.23182958 |
| 13 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.20890556 |
| 14 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.99971033 |
| 15 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.98104901 |
| 16 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.93416154 |
| 17 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.88172471 |
| 18 | * IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.87640529 |
| 19 | * CBP_20019798_ChIP-Seq_JUKART_Human | 1.87640529 |
| 20 | ERA_21632823_ChIP-Seq_H3396_Human | 1.83368333 |
| 21 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.81701465 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.78744717 |
| 23 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.76077060 |
| 24 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.72112803 |
| 25 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.70991710 |
| 26 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.68434854 |
| 27 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.62451274 |
| 28 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.61718826 |
| 29 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.61523373 |
| 30 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.58513091 |
| 31 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.57187337 |
| 32 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.55200453 |
| 33 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.54689339 |
| 34 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.53296462 |
| 35 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.50175059 |
| 36 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.47059484 |
| 37 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.46828240 |
| 38 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.46149792 |
| 39 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.43777867 |
| 40 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.42309176 |
| 41 | TBL1_22424771_ChIP-Seq_293T_Human | 1.41116180 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.38366844 |
| 43 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.37616560 |
| 44 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.37589722 |
| 45 | AR_25329375_ChIP-Seq_VCAP_Human | 1.36795340 |
| 46 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.33881959 |
| 47 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.29661844 |
| 48 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.29570361 |
| 49 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.26992572 |
| 50 | P68_20966046_ChIP-Seq_HELA_Human | 1.25960184 |
| 51 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.25466117 |
| 52 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.24237085 |
| 53 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.23857902 |
| 54 | P300_27268052_Chip-Seq_Bcells_Human | 1.23193777 |
| 55 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.23056849 |
| 56 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.21511677 |
| 57 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.21191879 |
| 58 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.20964620 |
| 59 | * P300_19829295_ChIP-Seq_ESCs_Human | 1.20688205 |
| 60 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.19651085 |
| 61 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.18941204 |
| 62 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.18877637 |
| 63 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.18866759 |
| 64 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.16714682 |
| 65 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.16230964 |
| 66 | * TP63_22573176_ChIP-Seq_HFKS_Human | 1.16145740 |
| 67 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.14165181 |
| 68 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.13935073 |
| 69 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.13934933 |
| 70 | NFYB_21822215_ChIP-Seq_K562_Human | 1.13850657 |
| 71 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.12149051 |
| 72 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.11246490 |
| 73 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.10154425 |
| 74 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.08751355 |
| 75 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.08721056 |
| 76 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.07986991 |
| 77 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.07799222 |
| 78 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.07799222 |
| 79 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.07601739 |
| 80 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.05348303 |
| 81 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.04789235 |
| 82 | VDR_22108803_ChIP-Seq_LS180_Human | 1.04554543 |
| 83 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.03361236 |
| 84 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 1.02797650 |
| 85 | STAT3_23295773_ChIP-Seq_U87_Human | 1.01717624 |
| 86 | * AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.00790701 |
| 87 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.00430907 |
| 88 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.98193566 |
| 89 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.97569615 |
| 90 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.96480103 |
| 91 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.96230970 |
| 92 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.96170970 |
| 93 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.96152106 |
| 94 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 0.95123263 |
| 95 | NFYA_21822215_ChIP-Seq_K562_Human | 0.95053542 |
| 96 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.93374928 |
| 97 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 0.92700994 |
| 98 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.92023723 |
| 99 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.91582704 |
| 100 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.90327325 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.62289458 |
| 2 | MP0001929_abnormal_gametogenesis | 4.09812193 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 3.69731776 |
| 4 | MP0003878_abnormal_ear_physiology | 3.69731776 |
| 5 | MP0003315_abnormal_perineum_morphology | 3.63631516 |
| 6 | MP0008004_abnormal_stomach_pH | 3.54824108 |
| 7 | MP0005670_abnormal_white_adipose | 3.14030852 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.52239329 |
| 9 | MP0002132_abnormal_respiratory_system | 2.39547138 |
| 10 | MP0002210_abnormal_sex_determination | 2.03509049 |
| 11 | MP0005410_abnormal_fertilization | 13.0441608 |
| 12 | MP0002160_abnormal_reproductive_system | 1.98078596 |
| 13 | MP0003718_maternal_effect | 1.89660941 |
| 14 | MP0005360_urolithiasis | 1.89007987 |
| 15 | MP0001348_abnormal_lacrimal_gland | 1.76947225 |
| 16 | MP0001145_abnormal_male_reproductive | 1.76038194 |
| 17 | MP0000678_abnormal_parathyroid_gland | 1.74168492 |
| 18 | MP0001984_abnormal_olfaction | 1.70637790 |
| 19 | MP0000653_abnormal_sex_gland | 1.61771370 |
| 20 | MP0003045_fibrosis | 1.50735220 |
| 21 | MP0005647_abnormal_sex_gland | 1.45187914 |
| 22 | MP0010386_abnormal_urinary_bladder | 1.41306576 |
| 23 | MP0001905_abnormal_dopamine_level | 1.33139507 |
| 24 | MP0001485_abnormal_pinna_reflex | 1.28934590 |
| 25 | MP0002249_abnormal_larynx_morphology | 1.28855367 |
| 26 | MP0003879_abnormal_hair_cell | 1.28081761 |
| 27 | MP0003646_muscle_fatigue | 1.25627985 |
| 28 | MP0009697_abnormal_copulation | 1.21695481 |
| 29 | MP0010368_abnormal_lymphatic_system | 1.18871022 |
| 30 | MP0002127_abnormal_cardiovascular_syste | 1.15708938 |
| 31 | MP0005395_other_phenotype | 1.13042274 |
| 32 | MP0005248_abnormal_Harderian_gland | 1.12955987 |
| 33 | MP0005499_abnormal_olfactory_system | 1.11356794 |
| 34 | MP0005394_taste/olfaction_phenotype | 1.11356794 |
| 35 | MP0001486_abnormal_startle_reflex | 1.06052405 |
| 36 | MP0008995_early_reproductive_senescence | 1.05446040 |
| 37 | MP0003136_yellow_coat_color | 1.05208553 |
| 38 | MP0001664_abnormal_digestion | 1.02007737 |
| 39 | MP0004859_abnormal_synaptic_plasticity | 1.00602793 |
| 40 | MP0002282_abnormal_trachea_morphology | 1.00053527 |
| 41 | MP0002138_abnormal_hepatobiliary_system | 0.95993389 |
| 42 | MP0002822_catalepsy | 0.92292169 |
| 43 | MP0005389_reproductive_system_phenotype | 0.87850374 |
| 44 | MP0005253_abnormal_eye_physiology | 0.87374617 |
| 45 | MP0005451_abnormal_body_composition | 0.87232871 |
| 46 | MP0001963_abnormal_hearing_physiology | 0.87122683 |
| 47 | MP0004085_abnormal_heartbeat | 0.85948969 |
| 48 | MP0001968_abnormal_touch/_nociception | 0.85766357 |
| 49 | MP0000538_abnormal_urinary_bladder | 0.85620282 |
| 50 | MP0005423_abnormal_somatic_nervous | 0.84241037 |
| 51 | MP0001188_hyperpigmentation | 0.83693547 |
| 52 | MP0004084_abnormal_cardiac_muscle | 0.81676059 |
| 53 | MP0003632_abnormal_nervous_system | 0.79849232 |
| 54 | MP0000534_abnormal_ureter_morphology | 0.77718186 |
| 55 | MP0005058_abnormal_lysosome_morphology | 0.77464815 |
| 56 | MP0000537_abnormal_urethra_morphology | 0.77311957 |
| 57 | MP0000026_abnormal_inner_ear | 0.76027613 |
| 58 | MP0001501_abnormal_sleep_pattern | 0.75511527 |
| 59 | MP0003936_abnormal_reproductive_system | 0.73559253 |
| 60 | MP0004036_abnormal_muscle_relaxation | 0.72698597 |
| 61 | MP0003631_nervous_system_phenotype | 0.71030607 |
| 62 | MP0004742_abnormal_vestibular_system | 0.70698536 |
| 63 | MP0009115_abnormal_fat_cell | 0.70129758 |
| 64 | MP0005379_endocrine/exocrine_gland_phen | 0.69223633 |
| 65 | MP0005187_abnormal_penis_morphology | 0.68533103 |
| 66 | MP0000470_abnormal_stomach_morphology | 0.66402027 |
| 67 | MP0001765_abnormal_ion_homeostasis | 0.66379373 |
| 68 | MP0001849_ear_inflammation | 0.66111203 |
| 69 | MP0005551_abnormal_eye_electrophysiolog | 0.65804021 |
| 70 | MP0002168_other_aberrant_phenotype | 0.62361128 |
| 71 | MP0001270_distended_abdomen | 0.62059896 |
| 72 | MP0006072_abnormal_retinal_apoptosis | 0.60953966 |
| 73 | MP0003011_delayed_dark_adaptation | 0.60931295 |
| 74 | MP0000049_abnormal_middle_ear | 0.60410738 |
| 75 | MP0000681_abnormal_thyroid_gland | 0.59076032 |
| 76 | MP0002272_abnormal_nervous_system | 0.58893708 |
| 77 | MP0000230_abnormal_systemic_arterial | 0.58677792 |
| 78 | MP0002067_abnormal_sensory_capabilities | 0.57348344 |
| 79 | MP0002229_neurodegeneration | 0.57118277 |
| 80 | MP0005595_abnormal_vascular_smooth | 0.55893286 |
| 81 | MP0002735_abnormal_chemical_nociception | 0.55756590 |
| 82 | MP0000955_abnormal_spinal_cord | 0.52306316 |
| 83 | MP0003633_abnormal_nervous_system | 0.51156790 |
| 84 | MP0005310_abnormal_salivary_gland | 0.50135928 |
| 85 | MP0004484_altered_response_of | 0.49017609 |
| 86 | MP0002557_abnormal_social/conspecific_i | 0.48577303 |
| 87 | MP0005646_abnormal_pituitary_gland | 0.46899233 |
| 88 | MP0005167_abnormal_blood-brain_barrier | 0.46061326 |
| 89 | MP0001529_abnormal_vocalization | 0.45814453 |
| 90 | MP0008789_abnormal_olfactory_epithelium | 0.43511135 |
| 91 | MP0003635_abnormal_synaptic_transmissio | 0.43386063 |
| 92 | MP0005409_darkened_coat_color | 0.43190060 |
| 93 | MP0005391_vision/eye_phenotype | 0.42995883 |
| 94 | MP0008877_abnormal_DNA_methylation | 0.41383767 |
| 95 | MP0004782_abnormal_surfactant_physiolog | 0.41154682 |
| 96 | MP0001879_abnormal_lymphatic_vessel | 0.40801527 |
| 97 | MP0002572_abnormal_emotion/affect_behav | 0.40557060 |
| 98 | MP0005166_decreased_susceptibility_to | 0.40282594 |
| 99 | MP0001919_abnormal_reproductive_system | 0.39755020 |
| 100 | MP0002234_abnormal_pharynx_morphology | 0.37322753 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Resting tremor (HP:0002322) | 7.29473981 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 7.14129016 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 7.14129016 |
| 4 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 6.29904802 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 6.07348728 |
| 6 | Abnormal ciliary motility (HP:0012262) | 5.99489019 |
| 7 | Infertility (HP:0000789) | 5.40479970 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.22033347 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.22033347 |
| 10 | Tubulointerstitial nephritis (HP:0001970) | 5.08003989 |
| 11 | Severe visual impairment (HP:0001141) | 4.98215234 |
| 12 | Abnormal sex determination (HP:0012244) | 4.87215683 |
| 13 | Sex reversal (HP:0012245) | 4.87215683 |
| 14 | Postural instability (HP:0002172) | 4.72469425 |
| 15 | Nasal polyposis (HP:0100582) | 4.63345631 |
| 16 | Chronic hepatic failure (HP:0100626) | 4.50034942 |
| 17 | Hypoplasia of the uterus (HP:0000013) | 4.08856625 |
| 18 | Abnormality of the nasal mucosa (HP:0000433) | 3.93245234 |
| 19 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.77076901 |
| 20 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.63579285 |
| 21 | Rhinitis (HP:0012384) | 3.56436524 |
| 22 | Abnormality of macular pigmentation (HP:0008002) | 3.53742386 |
| 23 | Attenuation of retinal blood vessels (HP:0007843) | 3.49354402 |
| 24 | Asymmetric septal hypertrophy (HP:0001670) | 3.42273228 |
| 25 | Gonadal dysgenesis (HP:0000133) | 3.34394796 |
| 26 | Male infertility (HP:0003251) | 3.29254372 |
| 27 | Hyperkalemia (HP:0002153) | 3.24210016 |
| 28 | Abnormality of the columella (HP:0009929) | 3.23482876 |
| 29 | Colitis (HP:0002583) | 3.20999619 |
| 30 | Cerebellar dysplasia (HP:0007033) | 3.16953123 |
| 31 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.11510768 |
| 32 | Aplasia/hypoplasia of the uterus (HP:0008684) | 3.02935735 |
| 33 | Male pseudohermaphroditism (HP:0000037) | 2.87904210 |
| 34 | Cone-rod dystrophy (HP:0000548) | 2.77998649 |
| 35 | Germ cell neoplasia (HP:0100728) | 2.76853497 |
| 36 | Chronic bronchitis (HP:0004469) | 2.75797658 |
| 37 | Reduced antithrombin III activity (HP:0001976) | 2.71933054 |
| 38 | Type II lissencephaly (HP:0007260) | 2.70617106 |
| 39 | Impulsivity (HP:0100710) | 2.69418326 |
| 40 | Bell-shaped thorax (HP:0001591) | 2.66098033 |
| 41 | Bronchiectasis (HP:0002110) | 2.61886717 |
| 42 | Hypoalphalipoproteinemia (HP:0003233) | 2.60588603 |
| 43 | Potter facies (HP:0002009) | 2.57120756 |
| 44 | Facial shape deformation (HP:0011334) | 2.57120756 |
| 45 | Abnormality of dental color (HP:0011073) | 2.54252508 |
| 46 | Renovascular hypertension (HP:0100817) | 2.52156276 |
| 47 | Occipital encephalocele (HP:0002085) | 2.51577928 |
| 48 | Renal dysplasia (HP:0000110) | 2.50946668 |
| 49 | Hypoplasia of the thymus (HP:0000778) | 2.48793185 |
| 50 | Menstrual irregularities (HP:0000858) | 2.41751487 |
| 51 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.41747357 |
| 52 | Congenital sensorineural hearing impairment (HP:0008527) | 2.41669260 |
| 53 | Sensory axonal neuropathy (HP:0003390) | 2.41363812 |
| 54 | Progressive sensorineural hearing impairment (HP:0000408) | 2.39917177 |
| 55 | Ventricular fibrillation (HP:0001663) | 2.39547455 |
| 56 | Atonic seizures (HP:0010819) | 2.38726955 |
| 57 | Retinal atrophy (HP:0001105) | 2.29713836 |
| 58 | Retinal dysplasia (HP:0007973) | 2.25584412 |
| 59 | Azoospermia (HP:0000027) | 2.24223276 |
| 60 | Abnormal drinking behavior (HP:0030082) | 2.23905296 |
| 61 | Polydipsia (HP:0001959) | 2.23905296 |
| 62 | Optic nerve hypoplasia (HP:0000609) | 2.22734596 |
| 63 | Abnormal spermatogenesis (HP:0008669) | 2.22490670 |
| 64 | Flattened epiphyses (HP:0003071) | 2.21923976 |
| 65 | Thoracolumbar scoliosis (HP:0002944) | 2.20948285 |
| 66 | Anterior segment dysgenesis (HP:0007700) | 2.17610013 |
| 67 | Abnormal urine output (HP:0012590) | 2.14828708 |
| 68 | Truncal obesity (HP:0001956) | 2.13651043 |
| 69 | Tubulointerstitial abnormality (HP:0001969) | 2.08052220 |
| 70 | Self-mutilation (HP:0000742) | 2.05987062 |
| 71 | Amelogenesis imperfecta (HP:0000705) | 2.03844886 |
| 72 | Facial hemangioma (HP:0000329) | 2.03734968 |
| 73 | Progressive cerebellar ataxia (HP:0002073) | 2.01641882 |
| 74 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.01122746 |
| 75 | Inflammation of the large intestine (HP:0002037) | 1.97454701 |
| 76 | Hypoplastic ischia (HP:0003175) | 1.94476111 |
| 77 | Thoracic kyphosis (HP:0002942) | 1.92904012 |
| 78 | Portal hypertension (HP:0001409) | 1.91389576 |
| 79 | Recurrent corneal erosions (HP:0000495) | 1.88501530 |
| 80 | Abnormality of the hepatic vasculature (HP:0006707) | 1.86128678 |
| 81 | Abnormality of renal excretion (HP:0011036) | 1.85594905 |
| 82 | Abnormality of the ischium (HP:0003174) | 1.82621792 |
| 83 | Buphthalmos (HP:0000557) | 1.79498040 |
| 84 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.79248843 |
| 85 | Generalized aminoaciduria (HP:0002909) | 1.78582544 |
| 86 | Polyuria (HP:0000103) | 1.78017731 |
| 87 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.76572108 |
| 88 | Increased purine levels (HP:0004368) | 1.75748547 |
| 89 | Hyperuricemia (HP:0002149) | 1.75748547 |
| 90 | Gastrointestinal inflammation (HP:0004386) | 1.75363735 |
| 91 | Stage 5 chronic kidney disease (HP:0003774) | 1.74106192 |
| 92 | Photophobia (HP:0000613) | 1.73667290 |
| 93 | Abnormality of potassium homeostasis (HP:0011042) | 1.73031236 |
| 94 | Rhabdomyolysis (HP:0003201) | 1.72754436 |
| 95 | Urinary urgency (HP:0000012) | 1.71045914 |
| 96 | Atrial fibrillation (HP:0005110) | 1.67537906 |
| 97 | Nephronophthisis (HP:0000090) | 1.66872393 |
| 98 | Type II diabetes mellitus (HP:0005978) | 1.65778266 |
| 99 | Enlarged epiphyses (HP:0010580) | 1.60682152 |
| 100 | Myoglobinuria (HP:0002913) | 1.60086283 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PINK1 | 8.78380348 |
| 2 | PLK4 | 5.39545394 |
| 3 | MARK3 | 4.48064602 |
| 4 | STK38 | 3.41477063 |
| 5 | TESK1 | 2.83460676 |
| 6 | TLK1 | 2.82649237 |
| 7 | STK38L | 2.64152633 |
| 8 | ZAK | 2.61527716 |
| 9 | MYLK | 2.36590825 |
| 10 | DDR2 | 2.23247866 |
| 11 | BRD4 | 2.17584778 |
| 12 | INSRR | 2.06470130 |
| 13 | MAPK15 | 2.01721883 |
| 14 | LATS1 | 1.96707221 |
| 15 | RPS6KA5 | 1.94568051 |
| 16 | MST1R | 1.88199237 |
| 17 | PNCK | 1.88126388 |
| 18 | NEK2 | 1.87477938 |
| 19 | PRKD3 | 1.81494308 |
| 20 | PLK2 | 1.77687151 |
| 21 | CAMK1G | 1.58347739 |
| 22 | MAP4K2 | 1.55663386 |
| 23 | LATS2 | 1.33286489 |
| 24 | PDPK1 | 1.31249101 |
| 25 | CDK3 | 1.23645702 |
| 26 | MAP3K9 | 1.22400579 |
| 27 | PDK1 | 1.16246744 |
| 28 | SGK223 | 1.13951322 |
| 29 | SGK494 | 1.13951322 |
| 30 | CDK12 | 1.06231312 |
| 31 | PIK3CG | 1.06074139 |
| 32 | MAP2K7 | 1.02837944 |
| 33 | WNK1 | 0.91668523 |
| 34 | PTK2B | 0.90674007 |
| 35 | NEK6 | 0.89328153 |
| 36 | PRKG2 | 0.78819279 |
| 37 | BMPR1B | 0.77165163 |
| 38 | ARAF | 0.75897722 |
| 39 | TIE1 | 0.74148633 |
| 40 | MAP3K1 | 0.71465284 |
| 41 | FRK | 0.69224232 |
| 42 | TYRO3 | 0.68195721 |
| 43 | AKT3 | 0.65802987 |
| 44 | DYRK1B | 0.65497374 |
| 45 | ROCK1 | 0.63231690 |
| 46 | PRKCQ | 0.63166989 |
| 47 | KSR2 | 0.61470377 |
| 48 | CAMK1 | 0.61412192 |
| 49 | BRAF | 0.61221999 |
| 50 | DYRK3 | 0.61154597 |
| 51 | PRKG1 | 0.60160182 |
| 52 | CDK7 | 0.56024269 |
| 53 | CDK14 | 0.52772459 |
| 54 | VRK1 | 0.51987562 |
| 55 | OBSCN | 0.51612636 |
| 56 | RPS6KA1 | 0.51059155 |
| 57 | CAMK1D | 0.49135534 |
| 58 | SIK2 | 0.44079009 |
| 59 | MTOR | 0.42172277 |
| 60 | CSNK1A1L | 0.42112054 |
| 61 | PAK2 | 0.40083465 |
| 62 | CDC42BPA | 0.40028515 |
| 63 | FGFR2 | 0.39218509 |
| 64 | PAK1 | 0.38638547 |
| 65 | PKN1 | 0.38176957 |
| 66 | MAP3K13 | 0.37591458 |
| 67 | RPS6KA2 | 0.35830139 |
| 68 | DYRK2 | 0.34881464 |
| 69 | MAPK1 | 0.33944754 |
| 70 | SGK2 | 0.31708063 |
| 71 | MAP3K2 | 0.31286986 |
| 72 | CSNK1G3 | 0.30841666 |
| 73 | ICK | 0.30030273 |
| 74 | MET | 0.28258436 |
| 75 | CDK5 | 0.27840937 |
| 76 | GSK3B | 0.27765782 |
| 77 | MOS | 0.23302794 |
| 78 | MAP3K8 | 0.22966026 |
| 79 | CDK1 | 0.19361725 |
| 80 | RET | 0.19282558 |
| 81 | ATM | 0.19207463 |
| 82 | SGK1 | 0.18284087 |
| 83 | CSNK1A1 | 0.17993435 |
| 84 | CSNK1G2 | 0.17226821 |
| 85 | ADRBK2 | 0.16969070 |
| 86 | CDK2 | 0.16809568 |
| 87 | WNK4 | 0.16626517 |
| 88 | CAMK4 | 0.15915521 |
| 89 | PRKAA2 | 0.15543105 |
| 90 | CSNK1G1 | 0.14702695 |
| 91 | MINK1 | 0.14683455 |
| 92 | RPS6KA3 | 0.14077844 |
| 93 | EEF2K | 0.13493758 |
| 94 | EGFR | 0.13196931 |
| 95 | MAPK8 | 0.12964110 |
| 96 | TGFBR1 | 0.12132001 |
| 97 | STK39 | 0.10188464 |
| 98 | RPS6KB1 | 0.08916531 |
| 99 | TNIK | 0.08043282 |
| 100 | PRKCB | 0.07949080 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 5.09799668 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.99378845 |
| 3 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.53120895 |
| 4 | Gap junction_Homo sapiens_hsa04540 | 3.77324200 |
| 5 | Olfactory transduction_Homo sapiens_hsa04740 | 3.57404757 |
| 6 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.84893544 |
| 7 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.49813341 |
| 8 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.46970524 |
| 9 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.45693801 |
| 10 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.32912938 |
| 11 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.21812039 |
| 12 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.97998530 |
| 13 | Phagosome_Homo sapiens_hsa04145 | 1.92716949 |
| 14 | Apoptosis_Homo sapiens_hsa04210 | 1.81348717 |
| 15 | Alcoholism_Homo sapiens_hsa05034 | 1.78646105 |
| 16 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.77091305 |
| 17 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.58344963 |
| 18 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.47252588 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.43677819 |
| 20 | Taste transduction_Homo sapiens_hsa04742 | 1.38875882 |
| 21 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.22250089 |
| 22 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.21034127 |
| 23 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.08469380 |
| 24 | RNA transport_Homo sapiens_hsa03013 | 1.03218694 |
| 25 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.02066583 |
| 26 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.99973545 |
| 27 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.98429041 |
| 28 | Renin secretion_Homo sapiens_hsa04924 | 0.95227952 |
| 29 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.94654442 |
| 30 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.93742126 |
| 31 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.93086410 |
| 32 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.88918508 |
| 33 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.86038472 |
| 34 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.78890842 |
| 35 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.76872059 |
| 36 | Phototransduction_Homo sapiens_hsa04744 | 0.75178399 |
| 37 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.71945181 |
| 38 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.71663663 |
| 39 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.71072157 |
| 40 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.69892225 |
| 41 | Circadian entrainment_Homo sapiens_hsa04713 | 0.68880189 |
| 42 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.68163320 |
| 43 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.68125805 |
| 44 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.65204405 |
| 45 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.64599167 |
| 46 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.63484856 |
| 47 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.63118037 |
| 48 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.62044270 |
| 49 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.61819204 |
| 50 | Salivary secretion_Homo sapiens_hsa04970 | 0.60804818 |
| 51 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.60567574 |
| 52 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.59269073 |
| 53 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.59174239 |
| 54 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.56821944 |
| 55 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.55726415 |
| 56 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.50923593 |
| 57 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.50069149 |
| 58 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.49928873 |
| 59 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.49824045 |
| 60 | Purine metabolism_Homo sapiens_hsa00230 | 0.49269474 |
| 61 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.46879530 |
| 62 | Basal transcription factors_Homo sapiens_hsa03022 | 0.46535398 |
| 63 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.45615502 |
| 64 | Endocytosis_Homo sapiens_hsa04144 | 0.45544696 |
| 65 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.44693833 |
| 66 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.43970439 |
| 67 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.43803735 |
| 68 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.43580602 |
| 69 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.43563764 |
| 70 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.42890535 |
| 71 | Long-term potentiation_Homo sapiens_hsa04720 | 0.42644119 |
| 72 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.41187102 |
| 73 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.40445732 |
| 74 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.39674950 |
| 75 | Circadian rhythm_Homo sapiens_hsa04710 | 0.39516179 |
| 76 | Morphine addiction_Homo sapiens_hsa05032 | 0.38506190 |
| 77 | ABC transporters_Homo sapiens_hsa02010 | 0.37802037 |
| 78 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.37682415 |
| 79 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.36538253 |
| 80 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.36398908 |
| 81 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.36306659 |
| 82 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.34496757 |
| 83 | Influenza A_Homo sapiens_hsa05164 | 0.34185473 |
| 84 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.33175425 |
| 85 | Tight junction_Homo sapiens_hsa04530 | 0.33147164 |
| 86 | Retinol metabolism_Homo sapiens_hsa00830 | 0.32952534 |
| 87 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.32349213 |
| 88 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.31413906 |
| 89 | Allograft rejection_Homo sapiens_hsa05330 | 0.30256652 |
| 90 | Nicotine addiction_Homo sapiens_hsa05033 | 0.28232371 |
| 91 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.27644745 |
| 92 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.27190713 |
| 93 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.25820129 |
| 94 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.25549465 |
| 95 | GABAergic synapse_Homo sapiens_hsa04727 | 0.24371895 |
| 96 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.24339921 |
| 97 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.23789051 |
| 98 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.23366009 |
| 99 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.21470188 |
| 100 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.21423426 |

